Luscan Lumish syndrome has been associated with several different types of variants. This includes variants that lead to a single amino acid change (missense), variants that lead to a premature termination of the reading frame (nonsense), and variants that leads to a shift of the reading frame of the gene (frameshift).
The c.5218C>T p.(Arg1740Trp) variant is a recurrent variant known to be associated with RAPAS. The c.5219G>A p.(Arg1740Gln) variant is a recurrent variant known to be associated with SETD2-neurodevelopmental disorder with normal growth without multiple congenital anomalies.
SETD2